This chapter examines the role of heredity in development, genetic disorders, prenatal development, teratogens, parental influences, and the birthing process.
Nature: Refers to genetics' contribution to development.
Genes: Specific sequences of nucleotides that serve as recipes for making proteins, located on chromosomes (46 chromosomes in normal human cells, 23 pairs).
There are approximately 20,500 genes in the human genome (Human Genome Project, 2015).
Mitosis: Process of cell division creating two identical cells.
Meiosis: Process of forming gametes (sperm and ova) resulting in cells with half the chromosomes (23).
Genotypes: The sum total of all genes inherited.
Phenotypes: The expressed physical traits of an individual.
Homozygous: Same version of a gene from each parent.
Heterozygous: Different versions of a gene from each parent.
Dominant and Recessive Genes: Dominant genes mask the expression of recessive ones. Examples of traits include facial dimples (dominant) and red hair (recessive).
Polygenic Inheritance: Characteristics influenced by multiple genes.
Incomplete Dominance: Situation where the dominant gene doesn’t completely mask the recessive gene, as seen in sickle cell disease.
Dominant Disorders: Examples include Tourette’s Syndrome (minor tics) and Huntington’s Disease (fatal, appears in midlife).
Recessive Disorders: More commonly life-threatening (e.g., cystic fibrosis, sickle-cell anemia).
Sex-linked Disorders: Affects the X chromosome (e.g., hemophilia, color-blindness). Males are disproportionately affected due to having only one X chromosome.
Defined as inheriting too many or too few chromosomes. Common cause is advanced maternal age.
Down Syndrome (Trisomy 21): Characterized by three 21st chromosomes leading to intellectual disability and distinct physical features.
Turner Syndrome: Affects females with an X chromosome missing (XO).
Klinefelter Syndrome: Affects males with an extra X chromosome (XXY).
Germinal Period: Conception to implantation (~14 days). Formation of zygote and later a blastocyst.
Embryonic Period: Begins at implantation; major organs and structures develop. Most vulnerable to teratogens.
Fetal Period: From 9 weeks to birth; maturation of organs and systems, characterized by significant growth and brain development.
Begins in the third gestational week as stem cells differentiate and form neural structures. Growth continues until mid-gestation.
Neurogenesis: Formation of neurons completed by five months, with neural migration and dendrite/axon development continuing postnatally.
Environmental factors that can cause birth defects (e.g., alcohol, tobacco, pollutants).
Factors affecting teratogen impact include timing, amount, number of teratogens, genetics, and infant sex.
Alcohol: Leading preventable cause of intellectual disabilities (FASD spectrum).
Tobacco: Linked to low birth weight and respiratory issues.
Illicit drugs: Associated with preterm birth, addiction, and developmental issues.
Age: Older mothers (over 35) at higher risk for complications, but may also offer stability.
Teenage Mothers: More risk for complications and low birth weight.
Gestational Diabetes: Occurs in about 7% of pregnancies; untreated can lead to serious outcomes.
High Blood Pressure: Affects about 8% of pregnant women.
Rh Disease: Occurs when the mother's blood lacks the Rh factor, which can affect future pregnancies.
Assessments include blood tests, ultrasounds to check fetal development, and procedures like amniocentesis for genetic conditions.
Expectant parents should prepare physically and mentally for childbirth, learning about their roles.
First Stage: Dilation of the cervix.
Second Stage: Delivery of the baby.
Third Stage: Delivery of the placenta.
C-sections are often necessitated by complications, while labor may be induced for health concerns.
Apgar Score: Assesses the newborn's condition soon after birth based on heart rate, respiration, muscle tone, reflex, and color.
Problems in Newborns: Low birth weight, preterm birth, and anoxia can lead to long-term developmental issues.